Linkage studies in progressive myoclonus epilepsy: Unverricht-lundborg and lafora’s diseases

Neurology

Volumn 42, Issue 8, 1992, Pages 1545-1550

  Lehesjoki, Anna Elina ^a,b   Koskiniemi, M ^a   Pandolfo, M ^c   Antonelli, A ^c   Kyllerman, M ^d   Wahlstrom J ^d   Nergardh A ^e   Burmeister, M ^f   Sistonen, P ^g   Norio, R ^h   de la Chapelle, A ^a,b  

^a UNIVERSITY OF HELSINKI   (Finland)

^b FOLKHÄLSAN INSTITUTE OF GENETICS   (Finland)

^c DEPARTMENT OF NEUROSURGERY   (Italy)

^d SAHLGRENSKA UNIVERSITY HOSPITAL   (Sweden)

^e KAROLINSKA UNIVERSITY HOSPITAL   (Sweden)

^f UNIVERSITY OF MICHIGAN   (United States)

^g FINNISH RED CROSS BLOOD SERVICE   (Finland)

^h NONE   (Finland)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CHROMOSOME 21; CLINICAL ARTICLE; GENE LOCATION; GENETIC LINKAGE; HUMAN; HUMAN TISSUE; ITALY; MYOCLONUS EPILEPSY; PEDIGREE ANALYSIS; PRIORITY JOURNAL; PULSED FIELD GEL ELECTROPHORESIS; SOUTHERN BLOTTING; SWEDEN;

CHROMOSOME MAPPING; COMPARATIVE STUDY; EPILEPSIES, MYOCLONIC; FINLAND; HUMAN; ITALY; LINKAGE (GENETICS); PEDIGREE; SUPPORT, NON-U.S. GOV'T; SUPPORT, U.S. GOV'T, P.H.S.; SWEDEN;

EID: 0026666387     PISSN: 00283878     EISSN: 1526632X     Source Type: Journal    
DOI: 10.1212/wnl.42.8.1545     Document Type: Article

References (39)

1. Berkovic SF, Andermann F, Carpenter S, Wolfe LS. Progressive myoclonus epilepsies: specific causes and diagnosis. N Engl J Med 1986;315:296-305.
2. Marseille Consensus Group. Classification of progressive myoclonus epilepsies and related disorders. Ann Neurol 1990;28:113-116.
3. Koskiniemi M, Donner M, Majuri H, Haltia M, Norio R. Progressive myoclonus epilepsy: a clinical and histopatho- logical study. Acta Neurol Scand 1974;50:307-332.
4. Koskiniemi M, Toivakka E, Donner M. Progressive myoclonus epilepsy: electroencephalographical findings. Acta Neurol Scand 1974;50:333-359.
5. Koskiniemi M. Psychological findings in progressive myoclonus epilepsy without Lafora bodies. Epilepsia 1974;15:537-545.
6. Norio R, Koskiniemi M. Progressive myoclonus epilepsy: genetic and nosological aspects with special reference to 107 Finnish patients. Clin Genet 1979;15:382-398.
7. Koskiniemi M. Progressive myoclonic epilepsy. In: Sillanpaa M, Johannessen SI, Blennow G, Dam M, eds. Paediatric epilepsy. Hampshire, UK: Wrightson, 1990:137-144.
8. Haltia M, Kristensson K, Sourander P. Neuropathological studies in three Scandinavian cases of progressive myoclonus epilepsy. Acta Neurol Scand 1969;45:63-77.
9. Schwarz GA. Lafora’s disease: a disorder of carboxydrate metabolism. In: Goldenshon ES, Appel SH, eds. Scientific approaches to clinical neurology. Philadelphia: Lea & Febiger, 1977:148-159.
10. Van Heycop Ten Ham MW, De Jager H. Progressive myoclonus epilepsy with Lafora bodies: clinical-pathological features. Epilepsia 1963;4:95-119.
11. Yokoi S, Austin J, Witmer F, Sakai M. Studies in myoclonus epilepsy (Lafora body form). I. Isolation and preliminary characterization of Lafora bodies in two cases. Arch Neurol 1968;19:15-33.
12. Lehesjoki A-E, Koskiniemi M, Sistonen P, et al. Localization of a gene for progressive myoclonus epilepsy to chromosome 21q22. Proc Natl Acad Sci U S A 1991;88:3696-3699.
13. Kyllerman M, Sommerfelt K, Hedstrom A, Wennergren G, Holmgren D. Clinical and neurophysiological development of Unverricht-Lundborg disease in four Swedish siblings. Epilepsia 1991;32:900-909.
14. Kunkel LM, Smith KD, Boyer SH, et al. Analysis of human Y-chromosome-specific reiterated DNA in chromosome variants. Proc Natl Acad Sci USA 1977;74:1245-1249.
15. Feinberg AP, Vogelstein B. A technique for radiolabelling DNA restriction endonuclease fragments to high specific activity. Anal Biochem 1983;132:6-13.
16. Feinberg AP, Vogelstein B. Addendum: a technique for radiolabelling DNA restriction endonuclease fragments to high specific activity. Anal Biochem 1984;137:266-267.
17. Burmeister M, Kim S, Price ER, et al. A map of the distal region of the long arm of human chromosome 21 constructed by radiation hybrid mapping and pulsed-field gel electrophoresis. Genomics 1991;9:19-30.
18. Horisberger MA, Wathelet M, Szpirer J, et al. cDNA cloning and assignment to chromosome 21 of IFI-78K gene, the human equivalent of murine Mx gene. Somat Cell Mol Genet 1988;14:123-131.
19. Petersen MB, Horisberger MA, Warren AC, Antonarakis SE. Two Pst I DNA polymorphisms adjacent to the human gene for the interferon-induced p78 protein (MX1 gene). Nucleic Acids Res 1989;17:7546.
20. Moisan J-P, Mattei M-G, Mandel J-L. Chromosome localization and polymorphism of an oestrogen-inducible gene specifically expressed in some breast cancers. Hum Genet 1988;79:168-171.
21. Stewart GD, Tanzi RE, Gusella JF. RFLPs at the D21S19 locus of human chromosome 21. Nucleic Acids Res 1985;13:7168.
22. Korenberg JR, Croyle ML, Cox DR. Isolation and regional mapping of DNA sequences unique to human chromosome 21. Am J Hum Genet 1987;41:963-978.
23. Petersen MB, Slaugenhaupt SA, Lewis JG, Warren AC, Chakravarti A, Antonarakis SE. A genetic linkage map of 27 markers on human chromosome 21. Genomics 1991;9:407-419.
24. Nakamura Y, Carlson M, Krapcho K, et al. Isolation and mapping of a polymorphic DNA sequence (pMCT15) on chromosome 21 (D21S113). Nucleic Acids Res 1988;16:9882.
25. Rouyer F, de la Chapelle A, Andersson M, Weissenbach J. An interspersed repeated sequence specific for human sub- telomeric regions. EMBO J 1990;9:505-514.
26. Rouyer F, de la Chapelle A, Weissenbach J. A polymorphic DNA sequence from the terminal part of chromosome 21q (.D21S154). Nucleic Acids Res 1990;18:1663.
27. Levanon D, Danciger E, Dafni N, Groner Y. Genomic clones of the human liver-type phosphofructokinase. Biochem Biophys Res Commun 1986;141:374-380.
28. Warren AC, Groner Y, Antonarakis SE. A DNA polymorphism with Kpn I of the human liver-type phosphofructokinase (PFKL) gene. Nucleic Acids Res 1988;16:9060.
29. Marlin SD, Morton CC, Anderson DC, Springer TA. LFA-1 immunodeficiency disease: definition of the genetic defect and chromosomal mapping of a and p subunits of the lymphocyte function-associated antigen 1 (LFA-1) by complementation in hybrid cells. J Exp Med 1986;164:855-867.
30. Kishimoto TK, O’Connor K, Lee A, Roberts TM, Springer TA. Cloning of the [i subunit of the leukocyte adhesion proteins: homology to an extracellular matrix receptor defines a novel supergene family. Cell 1987;48:681-690.
31. Stewart GD, Tanzi RE, Kishimoto TK, et al. The CD18 gene maps to distal chromosome 21q22.3: RFLPs create a highly informative terminal haplotype [abstract]. Am J Hum Genet 1988;43:A160.
32. Donis-Keller H, Green P, Helms C, et al. A genetic linkage map of the human genome. Cell 1987;51:319-337.
33. Schumm JW, Knowlton RG, Braman JC, et al. Identification of more than 500 RFLPs by screening random genomic clones. Am J Hum Genet 1988;42:143-159.
34. Lathrop GM, Lalouel JM, Julier C, Ott J. Strategies for multilocus linkage analysis in humans. Proc Natl Acad Sci U S A 1984;81:3443-3446.
35. Ott J. Analysis of human genetic linkage. Baltimore: The Johns Hopkins University Press, 1985:1-223.
36. Morton NE. The detection and estimation of linkage between the genes for elliptocytosis and the Rh blood type. Am J Hum Genet 1956;8:80-96.
37. Crete N, Delabar J-M, Yaspo M-L, Sinet P-M, Creau- Goldberg N. Five groups of physical linkage on chromosome 21 [abstract], Cytogenet Cell Genet 1991;58:2035.
38. Lander ES, Botstein D. Homozygosity mapping: a way to map human recessive traits with the DNA of inbred children. Science 1987;236:1567-1570.
39. Weber JL, May PE. Abundant class of human DNA polymorphisms which can be typed using the polymerase chain reaction. Am J Hum Genet 1989;44:388-396.